Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan (CROSBI ID 200452)
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Podaci o odgovornosti
Roscioli, T. ; Kamsteeg, E.J. ; Buysse, K. ; Maystadt, I. ; van Reeuwijk, J. ; van den Elzen, C. ; van Beusekom, E. ; Riemersma, M. ; Pfundt, R. ; Vissers, L.E. ; Schraders, M. ; Altunoglu, U. ; Buckley, M.F. ; Brunner, H.G. ; Grisart, B. ; Zhou, H. ; Veltman, J.A. ; Gilissen, C. ; Mancini, G.M. ; Delrée, P. ; Willemsen, M.A. ; Petković-Ramadža, Danijela ; ... ; van Bokhoven, Habs
engleski
Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan
Walker-Warburg syndrome (WWS) is an autosomal recessive multisystem disorder characterized by complex eye and brain abnormalities with congenital muscular dystrophy (CMD) and aberrant a-dystroglycan glycosylation. Here we report mutations in the ISPD gene (encoding isoprenoid synthase domain containing) as the second most common cause of WWS. Bacterial IspD is a nucleotidyl transferase belonging to a large glycosyltransferase family, but the role of the orthologous protein in chordates is obscure to date, as this phylum does not have the corresponding non-mevalonate isoprenoid biosynthesis pathway. Knockdown of ispd in zebrafish recapitulates the human WWS phenotype with hydrocephalus, reduced eye size, muscle degeneration and hypoglycosylated a-dystroglycan. These results implicate ISPD in a-dystroglycan glycosylation in maintaining sarcolemma integrity in vertebrates.
Walker-Warburg syndrome; O-glycosylation; ISPD gene
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Podaci o izdanju
Povezanost rada
Temeljne medicinske znanosti, Kliničke medicinske znanosti
